Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		Q9UHL9 GTF2I repeat domain containing 1 222 0.522 0.769 0.90 0.100 None 0 0
Entrez Id: 9126
Gene Symbol: SMC3
SMC3 		Q9UQE7 structural maintenance of chromosomes 3 193 0.535 0.846 1.00 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		Q9UIG0 bromodomain adjacent to zinc finger domain 1B 215 0.530 0.731 1.00 0.100 None 0 0
Entrez Id: 8910
Gene Symbol: SGCE
SGCE 		O43556 sarcoglycan epsilon Calcium-binding protein 68 0.626 0.538 2.4E-02 0.100 None 0 0
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D 		O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12 		Q93074 mediator complex subunit 12 Transcription factor 340 0.476 0.769 1.00 0.100 None 0 0
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.100 None 0 0
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 371 0.460 0.808 1.00 0.100 None 0 0
Entrez Id: 79734
Gene Symbol: KCTD17
KCTD17 		Q8N5Z5 potassium channel tetramerization domain containing 17 22 0.743 0.308 1.8E-02 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 7504
Gene Symbol: XK
XK 		P51811 X-linked Kx blood group 104 0.575 0.654 0.95 0.100 None 0 0
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2 		Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 201 0.529 0.808 1.00 0.100 None 0 0
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.100 None 0 0
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.100 None 0 0
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4 		P56524 histone deacetylase 4 Epigenetic regulator 256 0.484 0.885 1.00 0.100 None 0 0
Entrez Id: 11011
Gene Symbol: TLK2
TLK2 		Q86UE8 tousled like kinase 2 Kinase 71 0.631 0.538 1.00 0.100 None 0 0
Entrez Id: 26608
Gene Symbol: TBL2
TBL2 		Q9Y4P3 transducin beta like 2 190 0.538 0.731 1.8E-04 0.100 None 0 0
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 0
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 225 0.521 0.808 1.00 0.100 None 0 0
Entrez Id: 23552
Gene Symbol: CDK20
CDK20 		Q8IZL9 cyclin dependent kinase 20 Kinase 34 0.682 0.462 5.9E-14 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 1.00 0.100 None 0 0
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 117 0.599 0.577 1.00 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0